Glossary Term

Germline Variation

PCR TermsEN

Definition

Any mutation that appears in the gametes and which will therefore be transmitted to the progeny with some frequency.

Extended Notes

Source: National Cancer Institute, NCI Thesaurus 26.09d, C17666. NCI definition, reproduced without modification under CC BY 4.0. Source identity and definition checked automatically on 2026-10-20. No individual clinical interpretation or human reviewer is asserted.

Also Known As

Germline MutationGermline Mutation AbnormalityGermline VariantGermline VariationHereditary Mutation

References

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FASTQ Format

A text-based format for storing a biological sequence that encodes the nucleotide calls as well as their quality scores. It is an extension of the FASTA format.

Phred Quality Score

A score reported on a logarithmic scale representing the probability that a nucleotide base was incorrectly called by the base caller.

Sequencing Library

A collection of double stranded DNA fragments flanked by oligonucleotide sequence adapters to enable their analysis by high-throughput sequencing.